MOLECULAR STUDY X-LINKED HYPOPHOSPHATEMIA (PHEX) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4054

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	50 days
Information:
X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. It is the most common form of hereditary hypophosphatemia. The disease affects both sexes equally. XLH manifests during childhood with typical clinical features of rickets such as short stature, bone pain, and skeletal deformities, dental abnormalities are observed in children and adults. Cranial anomalies are also observed due to thickness of parietal and frontal bones. In adults, osteoarthritis of the lower limbs, mineralizing enthesopathy and osteophyte formation commonly occur and, in some rare cases, hearing loss has been observed. Muscle weakness and hypotonia are absent. The disease is caused by various mutations in the PHEX gene (Xp22.1) and is transmitted as an X-linked dominant trait with complete penetrance, but variable expressivity. With consistent treatment, prognosis is good and skeletal deformities can be normalized, but growth rates usually remain below normal.
Links:
OMIM Entry - # 307800 - HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR
Orphanet- X linked hypophosphatemia
OMIM Entry - - 300550 - PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX

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